Varaico: Literature-Extracted Genetic Variants

Gene:MEF2C
Variant:p.Q18_V19Splc
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MEF2C

NM_002397.5:p.Q18_V19Splc

Associated Papers

Genotypes and Phenotypes of MEF2C Haploinsufficiency Syndrome: New Cases and Novel Point Mutations.

Wan L et al.

Frontiers in Pediatrics, 2021

34055696 (PubMed )
Supplement: Table_1.XLSX › MEF2C____2_
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